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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1858679 | CATARACT, AUTOSOMAL DOMINANT | STS | 412 | steroid sulfatase | P08842 |
| C1855179 | CATARACT, ANTERIOR POLAR | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1855179 | CATARACT, ANTERIOR POLAR | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1855179 | CATARACT, ANTERIOR POLAR | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1855179 | CATARACT, ANTERIOR POLAR | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1855179 | CATARACT, ANTERIOR POLAR | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1855179 | CATARACT, ANTERIOR POLAR | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1855179 | CATARACT, ANTERIOR POLAR | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1855179 | CATARACT, ANTERIOR POLAR | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPD | 6441 | surfactant protein D | P35247 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C1855179 | CATARACT, ANTERIOR POLAR | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1855179 | CATARACT, ANTERIOR POLAR | SDC4 | 6385 | syndecan 4 | P31431 |
| C1855179 | CATARACT, ANTERIOR POLAR | FCN2 | 2220 | ficolin 2 | Q15485 |
| C3888417 | CATARACT 5, MULTIPLE TYPES | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C4225300 | CATARACT 44 | LSS | 4047 | lanosterol synthase | P48449 |
| C3553494 | CATARACT 38 | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C3805373 | CATARACT 13 WITH ADULT i PHENOTYPE | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C1833518 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833508 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1861861 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
